Carrier of cystic fibrosis gene awarded the Gift of Hope IVF Grant 2024

Men who are carriers of the cystic fibrosis gene, even if they are otherwise asymptomatic of the disease, can experience infertility as a result. In these cases, in vitro fertilization coupled with microsurgical sperm extraction can assist in pregnancy. Christopher, from Lafayette, is a carrier of the cystic fibrosis gene and was awarded the Gift of Hope IVF Grant 2024.

Christopher and Andrea’s journey began in 2019 after exchanging their vows. They eagerly wanted to start a family from the moment they became one. But, the Lafayette couple was surprised when their efforts were unsuccessful. Since then, their journey has had them crisscrossing South Louisiana, from Lafayette to Baton Rouge and New Orleans, to different urologists and fertility specialists, all with the hopes of building their family.

Surprise diagnosis brings challenges to conceive

In March 2020, Andrea confided with her ObGyn their struggles to conceive who recommended they both get preliminary fertility testing. It was then they discovered that Chris had a complete lack of sperm. “Fatherhood is something I’ve always longed for,” says Chris. “As a third-generation business owner, passing on a legacy means everything to me. But that all pales in comparison with giving the light of my life the gift she has always longed for which is motherhood.”

Throughout the 2020 COVID pandemic and over the next 3 years, Chris underwent a series of tests and procedures under the care of several urologists. “During these times a dark cloud was cast over us,” admits Chris. “No man ever thinks he will have these struggles.”

Finally, after what felt like an eternity, they started to receive some answers, marking the beginning of a new chapter in their fertility journey. Urologic exam revealed that Chris had an extremely rare form of male infertility. He lacked the vas deferens, the muscular tubes responsible for transporting sperm from the testicles into the ejaculatory duct. After further genetic testing, it was discovered that Chris carries one copy of the gene mutation CFTR indicating he is a carrier of the cystic fibrosis gene.

Carriers of cystic fibrosis often lack a vas deferens

Cystic fibrosis is an autosomal recessive genetic disease that causes serious illness, specifically the lungs. However, to get the disease a person would have to had inherited two copies of the gene, one from each parent. People who carry just one copy of the cystic fibrosis gene, like Chris, are usually asymptomatic for the disease and are called carriers. However, carriers can still be affected in other ways. Specifically, for men who carry the gene, it can affect the development of the vas deferens, the tubes that transport sperm from the testicles to the ejaculatory duct. In these situations, the vas deferens can be blocked or absent entirely, a condition called congenital bilateral absence of the vas deferens (CBAVD). This causes sperm to become trapped in the testicles making it impossible for sperm to reach and fertilize an egg through intercourse.

While Chris and Andrea were relieved to finally have a diagnosis, the reality of their situation began to set in. “I slowly saw my social butterfly Andrea become more reclusive,” remembers Chris. They felt increasingly alone in their struggle, as no one in their immediate circle could truly comprehend the heartache and anguish they were experiencing. It was an emotional rollercoaster, marked by countless tears and uncertainty about what the future held.

“When you are diagnosed with a condition that less than two percent of males suffer with, any reasonable person would ask ‘Why me?'” says Chris. How, he thought, can he be the pragmatic and resilient man in times like this? How does he help his wife stay hopeful and positive when the results are constantly negative? 

Advanced reproductive therapies can help men with the cystic fibrosis gene father a child

Sperm development are usually normal in CBAVD patients and carriers of the cystic fibrosis gene, meaning that there is still a chance of fathering a child. The problem for these patients is how to get the sperm. This is where advanced reproductive therapies in sperm extraction come in. Specifically, men can be treated with a variety of sperm extraction techniques combined with intracytoplasmic sperm injection in an IVF cycle to help them conceive a child. Sperm extraction can potentially yield thousands or even millions of sperm, which can be frozen and used in future fertility cycles.

Fertility Answers’s partnership with Posterity Health, and their roster of reproductive urologists specifically trained in helping men overcome infertility, provides the perfect solution for Chris and Andrea. To coincide with the Gift of Hope IVF Grant, Posterity Health has discounted their services to further help the couple financially afford the procedure. “We are thankful for the opportunity to support the Gift of Hope on behalf of Fertility Answers,” says Matt Lenz with Posterity Health. “We are excited about what we’ve been able to create together, which benefits both the male and the female when trying to conceive a child.”

“Life has a way of humbling you,” says Chris. While grappling with his new reality as a carrier of the cystic fibrosis gene, over the past year, he has been awarded many accolades of achievement. He was one of the recipients of Acadiana’s Top 20 under 40 award for his work with his landscaping company. He was inducted into the Leadership Institute of Acadiana for his community work. He was asked to speak at a Lafayette Economic Development of Acadiana (LEDA) convention. He was also asked to be a mentor for the One Acadiana program. In addition, he and Andrea successfully opened Parc De Oaks, the first and only food truck park in Lafayette. “Yet, I’m still reminded of my failures to give the light of my life what she truly desires, motherhood. But we are committed to keep fighting, to not remain stagnant. We are determined to have a child.”